Epilepsy – Pyridoxine-Dependent Epilepsy

Dr. Gospe’s research concerns pyridoxine-dependent epilepsy, a rare familial disorder that results in pharmacoresistent seizures in infants and young children. This autosomal recessive condition is due to mutations in the ALDH7A1 gene that encodes the protein antiquitin. His recent work has focused on the natural history of this disease, particularly the associated neurodevelopmental features. Together with Drs. Hevner and Jansen (formerly) of CIBR, the role of antiquitin in brain development is being investigated.